A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18124374



Internal ID20691414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128441034..128442614hg38UCSC Ensembl
chr5:127776727..127778307hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381581
hg191581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407664
Supporting Variants
Samples
Known GenesFBN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18124374
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00044


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